Incidental Mutation 'IGL03190:Bcl11a'
ID 412623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl11a
Ensembl Gene ENSMUSG00000000861
Gene Name BCL11 transcription factor A
Synonyms mouse myeloid leukemia gene, CTIP1, Evi9a, Evi9b, Evi9c, D930021L15Rik, COUP-TF interacting protein 1, 2810047E18Rik, Evi9
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03190
Quality Score
Status
Chromosome 11
Chromosomal Location 24028056-24124123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24108333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 104 (E104K)
Ref Sequence ENSEMBL: ENSMUSP00000112948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000881] [ENSMUST00000109514] [ENSMUST00000109516] [ENSMUST00000118955]
AlphaFold Q9QYE3
Predicted Effect probably benign
Transcript: ENSMUST00000000881
AA Change: E156K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000881
Gene: ENSMUSG00000000861
AA Change: E156K

DomainStartEndE-ValueType
Pfam:zf-C2H2_6 45 73 5.9e-9 PFAM
ZnF_C2H2 170 193 7.15e-2 SMART
low complexity region 258 274 N/A INTRINSIC
low complexity region 327 338 N/A INTRINSIC
low complexity region 352 373 N/A INTRINSIC
ZnF_C2H2 377 399 6.23e-2 SMART
ZnF_C2H2 405 427 1.69e-3 SMART
low complexity region 456 472 N/A INTRINSIC
coiled coil region 481 513 N/A INTRINSIC
low complexity region 614 634 N/A INTRINSIC
low complexity region 682 696 N/A INTRINSIC
low complexity region 708 731 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109514
AA Change: E156K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105140
Gene: ENSMUSG00000000861
AA Change: E156K

DomainStartEndE-ValueType
Blast:ZnF_C2H2 46 72 8e-10 BLAST
ZnF_C2H2 170 193 7.15e-2 SMART
low complexity region 258 274 N/A INTRINSIC
low complexity region 327 338 N/A INTRINSIC
low complexity region 352 373 N/A INTRINSIC
ZnF_C2H2 377 399 6.23e-2 SMART
ZnF_C2H2 405 427 1.69e-3 SMART
low complexity region 456 472 N/A INTRINSIC
coiled coil region 481 513 N/A INTRINSIC
low complexity region 614 634 N/A INTRINSIC
low complexity region 682 696 N/A INTRINSIC
low complexity region 708 731 N/A INTRINSIC
ZnF_C2H2 742 764 1.41e0 SMART
ZnF_C2H2 770 792 4.24e-4 SMART
ZnF_C2H2 800 823 3.07e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109516
AA Change: E156K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105142
Gene: ENSMUSG00000000861
AA Change: E156K

DomainStartEndE-ValueType
Pfam:zf-C2H2_6 45 73 3.2e-8 PFAM
ZnF_C2H2 170 193 7.15e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118955
AA Change: E104K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112948
Gene: ENSMUSG00000000861
AA Change: E104K

DomainStartEndE-ValueType
ZnF_C2H2 118 141 7.15e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131383
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in B cell deficiency, alteration of T cell types, and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,016,510 (GRCm39) C314S probably damaging Het
Agr2 T A 12: 36,048,634 (GRCm39) I128N probably damaging Het
Akr1c6 T C 13: 4,496,412 (GRCm39) I91T possibly damaging Het
Ankrd45 A G 1: 160,990,909 (GRCm39) I221V probably benign Het
Armc3 A T 2: 19,293,761 (GRCm39) L517F probably damaging Het
Atp13a3 A T 16: 30,141,766 (GRCm39) M1129K probably benign Het
Atp6v0a4 T A 6: 38,031,491 (GRCm39) Q670L probably benign Het
Bank1 T C 3: 135,806,185 (GRCm39) Y483C probably damaging Het
Bcan A T 3: 87,900,357 (GRCm39) probably benign Het
Clasp2 C T 9: 113,673,208 (GRCm39) Q368* probably null Het
Clcn1 T A 6: 42,267,037 (GRCm39) Y71N probably benign Het
Cul2 C T 18: 3,429,634 (GRCm39) T498I possibly damaging Het
Fat4 A G 3: 39,035,390 (GRCm39) D3014G probably damaging Het
Flnc T C 6: 29,445,636 (GRCm39) probably benign Het
Il36g C A 2: 24,077,272 (GRCm39) S28* probably null Het
Itgb3bp A G 4: 99,677,923 (GRCm39) probably benign Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Klk1b26 T C 7: 43,662,151 (GRCm39) F3S possibly damaging Het
Lin52 T C 12: 84,504,732 (GRCm39) V39A probably damaging Het
Magt1 A C X: 105,032,622 (GRCm39) N242K probably benign Het
Nos3 A G 5: 24,588,627 (GRCm39) M1118V probably damaging Het
Or1j13 A T 2: 36,369,734 (GRCm39) M136K probably damaging Het
Or6k2 T C 1: 173,987,110 (GRCm39) V257A probably damaging Het
Paqr5 A C 9: 61,880,084 (GRCm39) L56R probably damaging Het
Pcdhb16 T C 18: 37,612,396 (GRCm39) F452S probably damaging Het
Prdm5 T A 6: 65,833,116 (GRCm39) probably benign Het
Rps6ka5 A G 12: 100,524,907 (GRCm39) probably benign Het
Slc22a5 A G 11: 53,765,840 (GRCm39) F249L probably benign Het
Spata31f1a C A 4: 42,848,362 (GRCm39) G1265C probably benign Het
Ttll2 T C 17: 7,618,779 (GRCm39) K383E probably benign Het
Ube2o G A 11: 116,435,954 (GRCm39) P353L probably damaging Het
Vmn1r63 T C 7: 5,806,110 (GRCm39) D174G probably benign Het
Vmn2r82 A G 10: 79,192,643 (GRCm39) probably null Het
Xpnpep2 T A X: 47,207,205 (GRCm39) probably benign Het
Zfp352 T A 4: 90,111,994 (GRCm39) S45T possibly damaging Het
Zfp811 A G 17: 33,017,855 (GRCm39) probably benign Het
Zfyve19 G A 2: 119,046,717 (GRCm39) A304T probably damaging Het
Other mutations in Bcl11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Bcl11a APN 11 24,113,346 (GRCm39) missense probably benign 0.00
R0317:Bcl11a UTSW 11 24,122,697 (GRCm39) critical splice acceptor site probably null
R1061:Bcl11a UTSW 11 24,114,069 (GRCm39) nonsense probably null
R1124:Bcl11a UTSW 11 24,113,928 (GRCm39) missense probably damaging 1.00
R1163:Bcl11a UTSW 11 24,115,143 (GRCm39) missense probably benign 0.41
R1498:Bcl11a UTSW 11 24,114,005 (GRCm39) missense probably damaging 1.00
R1599:Bcl11a UTSW 11 24,113,887 (GRCm39) missense probably damaging 1.00
R1689:Bcl11a UTSW 11 24,114,406 (GRCm39) missense possibly damaging 0.66
R1689:Bcl11a UTSW 11 24,113,167 (GRCm39) missense probably damaging 1.00
R1754:Bcl11a UTSW 11 24,114,724 (GRCm39) missense probably damaging 1.00
R2036:Bcl11a UTSW 11 24,114,087 (GRCm39) missense possibly damaging 0.71
R2207:Bcl11a UTSW 11 24,113,343 (GRCm39) missense probably damaging 1.00
R3700:Bcl11a UTSW 11 24,113,890 (GRCm39) missense probably damaging 1.00
R3779:Bcl11a UTSW 11 24,114,568 (GRCm39) missense probably damaging 1.00
R4557:Bcl11a UTSW 11 24,114,004 (GRCm39) missense probably damaging 1.00
R4703:Bcl11a UTSW 11 24,113,725 (GRCm39) missense possibly damaging 0.80
R5006:Bcl11a UTSW 11 24,114,989 (GRCm39) nonsense probably null
R5053:Bcl11a UTSW 11 24,114,068 (GRCm39) missense probably benign 0.03
R5495:Bcl11a UTSW 11 24,115,042 (GRCm39) missense possibly damaging 0.73
R5581:Bcl11a UTSW 11 24,113,932 (GRCm39) missense probably damaging 1.00
R5680:Bcl11a UTSW 11 24,114,264 (GRCm39) missense possibly damaging 0.52
R5790:Bcl11a UTSW 11 24,113,650 (GRCm39) missense probably damaging 1.00
R6291:Bcl11a UTSW 11 24,108,321 (GRCm39) missense probably damaging 0.96
R6723:Bcl11a UTSW 11 24,113,646 (GRCm39) missense probably damaging 1.00
R7116:Bcl11a UTSW 11 24,113,839 (GRCm39) missense probably damaging 1.00
R7274:Bcl11a UTSW 11 24,113,985 (GRCm39) missense probably damaging 1.00
R7569:Bcl11a UTSW 11 24,035,458 (GRCm39) nonsense probably null
R7843:Bcl11a UTSW 11 24,114,831 (GRCm39) missense probably benign 0.26
R7923:Bcl11a UTSW 11 24,113,680 (GRCm39) missense probably damaging 1.00
R7964:Bcl11a UTSW 11 24,113,353 (GRCm39) missense probably benign 0.28
R8211:Bcl11a UTSW 11 24,028,394 (GRCm39) missense probably damaging 0.99
R8242:Bcl11a UTSW 11 24,113,208 (GRCm39) missense probably benign 0.14
R8338:Bcl11a UTSW 11 24,114,578 (GRCm39) missense probably damaging 1.00
R8478:Bcl11a UTSW 11 24,115,086 (GRCm39) missense probably damaging 1.00
R8896:Bcl11a UTSW 11 24,113,640 (GRCm39) missense probably benign 0.00
R8911:Bcl11a UTSW 11 24,114,763 (GRCm39) missense probably damaging 1.00
R9489:Bcl11a UTSW 11 24,114,582 (GRCm39) missense probably benign 0.00
Z1176:Bcl11a UTSW 11 24,115,010 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02